Expanding the Phenotypic Spectrum of <i>ECEL1</i>-Associated Distal Arthrogryposis

• Main Authors: Akshata Huddar (Author), Kiran Polavarapu (Author), Veeramani Preethish-Kumar (Author), Mainak Bardhan (Author), Gopikrishnan Unnikrishnan (Author), Saraswati Nashi (Author), Seena Vengalil (Author), Priyanka Priyadarshini (Author), Karthik Kulanthaivelu (Author), Gautham Arunachal (Author), Hanns Lochmüller (Author), Atchayaram Nalini (Author)
• Format: Book
• Published: MDPI AG, 2021-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Distal arthrogryposis type 5D (DA5D), a rare autosomal recessive disorder, is caused by mutations in <i>ECEL1.</i> We describe two consanguineous families (three patients) with novel <i>ECEL1</i> gene mutations detected by next-generation sequencing (NGS). A 12-year-old boy (...